G263C (p.Gly263Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)
G263C (p.Gly263Cys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature.
G263C (p.Gly263Cys) variant details
- p.Gly263Cys
- rs1569517943
- ClinGen CA410520822
- ClinVar RCV000761227
- Ensembl rs1569517943
- Likely pathogenic
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Likely pathogenic (Ullrich congenital muscular dystrophy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)